Canonical Allele Identifier: CA400556890

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564414G>T (hg19) ; chr17:g.63487053G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487053G>T , CM000679.2:g.63487053G>T	GRCh38
NC_000017.10:g.61564414G>T , CM000679.1:g.61564414G>T	GRCh37
NC_000017.9:g.58918146G>T	NCBI36
NG_011648.1:g.14981G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2285G>T MANE Select	ENSP00000290866.4:p.Ser762Ile
ENST00000290863.10:c.563G>T	ENSP00000290863.6:p.Ser188Ile
ENST00000290866.9:c.2285G>T	ENSP00000290866.4:p.Ser762Ile
ENST00000413513.7:c.563G>T	ENSP00000392247.3:p.Ser188Ile
ENST00000428043.5:c.2285G>T	ENSP00000397593.2:p.Ser762Ile
ENST00000577647.2:c.563G>T	ENSP00000464149.1:p.Ser188Ile
ENST00000578839.5:c.*355G>T	ENSP00000462110.2:n.*355G>T
ENST00000579204.1:c.466G>T	ENSP00000464629.1:n.466G>T
ENST00000579314.5:c.563G>T	ENSP00000462599.1:p.Ser188Ile
ENST00000579726.5:c.847G>T
ENST00000582005.5:c.*205G>T	ENSP00000462002.1:n.*205G>T
ENST00000582761.1:c.53G>T	ENSP00000462909.1:p.Ser18Ile
ENST00000584865.5:n.231G>T
NM_000789.3:c.2285G>T	NP_000780.1:p.Ser762Ile
NM_001178057.1:c.563G>T	NP_001171528.1:p.Ser188Ile
NM_152830.2:c.563G>T	NP_690043.1:p.Ser188Ile
XM_005257110.1:c.1736G>T	XP_005257167.1:p.Ser579Ile
XM_006721737.2:c.623G>T	XP_006721800.2:p.Ser208Ile
XM_006721737.3:c.623G>T	XP_006721800.2:p.Ser208Ile
NM_000789.4:c.2285G>T MANE Select	NP_000780.1:p.Ser762Ile
NM_001178057.2:c.563G>T	NP_001171528.1:p.Ser188Ile
NM_152830.3:c.563G>T	NP_690043.1:p.Ser188Ile
NM_001382700.1:c.1718G>T	NP_001369629.1:p.Ser573Ile
NM_001382701.1:c.1433G>T	NP_001369630.1:p.Ser478Ile
NM_001382702.1:c.215G>T	NP_001369631.1:p.Ser72Ile
NR_168483.1:n.585G>T